Variant #0000881133 (NC_000019.9:g.15303059C>T, NOTCH3(NM_000435.2):c.391G>A)
Individual ID |
00419470 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15303059C>T |
DNA change (hg38) |
g.15192248C>T |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH3_000402 |
Variant remarks |
ACMG PM1, PM2, PP2, PP3 |
Reference |
PubMed: Marinakis 2021 |
ClinVar ID |
- |
dbSNP ID |
rs767150916 |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Jan Traeger-Synodinos |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-10-20 16:24:48 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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